Metadata | |
---|---|
ID | DOID:0110127 |
Name | Bardet-Biedl syndrome 5 |
Definition | A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. https://www.ncbi.nlm.nih.gov/pubmed/15137946 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
BBS5 [EXACT] |
Parent Relationships |